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A hybrid approach for de novo human genome sequence assembly and phasing.
Mostovoy, Yulia; Levy-Sakin, Michal; Lam, Jessica; Lam, Ernest T; Hastie, Alex R; Marks, Patrick; Lee, Joyce; Chu, Catherine; Lin, Chin; Dzakula, Zeljko; Cao, Han; Schlebusch, Stephen A; Giorda, Kristina; Schnall-Levin, Michael; Wall, Jeffrey D; Kwok, Pui-Yan.
Afiliação
  • Mostovoy Y; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Levy-Sakin M; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Lam J; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Lam ET; BioNano Genomics, Inc., San Diego, California, USA.
  • Hastie AR; BioNano Genomics, Inc., San Diego, California, USA.
  • Marks P; 10X Genomics, Inc., Pleasanton, California, USA.
  • Lee J; BioNano Genomics, Inc., San Diego, California, USA.
  • Chu C; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Lin C; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Dzakula Z; BioNano Genomics, Inc., San Diego, California, USA.
  • Cao H; BioNano Genomics, Inc., San Diego, California, USA.
  • Schlebusch SA; Department of Molecular and Cell Biology, University of Cape Town, Cape Town, South Africa.
  • Giorda K; 10X Genomics, Inc., Pleasanton, California, USA.
  • Schnall-Levin M; 10X Genomics, Inc., Pleasanton, California, USA.
  • Wall JD; Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
  • Kwok PY; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
Nat Methods ; 13(7): 587-90, 2016 07.
Article em En | MEDLINE | ID: mdl-27159086
ABSTRACT
Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Genoma Humano / Mapeamento Cromossômico / Genômica / Sequenciamento de Nucleotídeos em Larga Escala Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Genoma Humano / Mapeamento Cromossômico / Genômica / Sequenciamento de Nucleotídeos em Larga Escala Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article